scholarly journals HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme

2016 ◽  
Vol 37 (6) ◽  
pp. 576-578 ◽  
Author(s):  
Zandra C. Deans ◽  
Jennifer A. Fairley ◽  
Johan T den Dunnen ◽  
Caroline Clark
Keyword(s):  
United Kingdom ◽  
Quality Assessment ◽  
External Quality Assessment ◽  
External Quality ◽  
External Quality Assessment Scheme ◽  
The United Kingdom

External quality assessment of assays of lead in blood.

1986 ◽  
Vol 32 (10) ◽  
pp. 1884-1889 ◽  
Author(s):  
D G Bullock ◽  
N J Smith ◽  
T P Whitehead
Keyword(s):  
United Kingdom ◽  
Quality Assessment ◽  
External Quality Assessment ◽  
Lead In Blood ◽  
External Quality ◽  
External Quality Assessment Scheme ◽  
Scheme Design ◽  
The United Kingdom ◽  
Consensus Values ◽  
Variance Index

Abstract The operation and results of the United Kingdom External Quality Assessment Scheme for Lead in Blood, which currently has about 140 participants within and outside the U.K. are described. The choice of specimens, scheme design, and scoring of performance are discussed, as is the validity of the consensus values used as a basis for the scoring. There has been a continued improvement in performance as assessed by this program, some of which appears to have been stimulated by the introduction of Variance Index scoring. The relative performance of the methods for assaying lead in blood is also examined.

The UK National External Quality Assessment Scheme for Heritable Bleeding Disorders

2014 ◽  
Vol 40 (02) ◽  
pp. 261-268 ◽  
Author(s):  
David Perry ◽  
Tony Cumming ◽  
Anne Goodeve ◽  
Marian Hill ◽  
Ian Jennings ◽  
...  
Keyword(s):  
United Kingdom ◽  
Quality Assessment ◽  
External Quality Assessment ◽  
Wide Spectrum ◽  
Bleeding Disorders ◽  
The European Union ◽  
External Quality ◽  
External Quality Assessment Scheme ◽  
The United Kingdom ◽  
The Uk

Molecular genetic analysis of families with hemophilia and other heritable bleeding disorders is a frequently requested laboratory investigation. In the United Kingdom, laboratories undertaking genetic testing must participate in a recognized external quality assessment scheme for formal accreditation. The UK National External Quality Assessment Scheme (UK NEQAS) for heritable bleeding disorders was established in its current format in 2003, and currently has 27 registered participants in the United Kingdom, the European Union (EU), and the non-EU countries. Two exercises per annum are circulated to participants comprising either whole blood or DNA isolated from cell lines, and laboratories are allowed 6 weeks to analyze the samples and generate a report. Reports are assessed by a panel comprising clinicians and scientists with expertise in this area. Samples to date have involved analysis of the F8 gene (10 exercises), the F9 gene (4 exercises), and the VWF gene (3 exercises) and have comprised a wide spectrum of mutations representing the routine workload encountered in the molecular genetics laboratory. The majority of laboratories in each exercise passed, but a small number did not and reasons for failing included clerical errors, genotyping inaccuracies, and a failure to correctly interpret data. Overall we have seen an improvement in quality of reports submitted for assessment, with a more concise format that will be of value to referring clinicians and counsellors. Informal feedback from participants has been very positive.

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